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Justine Rousseau
Centre Hospitalier Universitaire Sainte-Justine
25Publications
8H-index
312Citations
Publications 29
Newest
#1Lin LiH-Index: 4
#2Mohammad GhorbaniH-Index: 5
Last.Xiang-Jiao YangH-Index: 31
view all 34 authors...
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#1Kezhi Yan (McGill University)H-Index: 9
#2Justine Rousseau (UdeM: Université de Montréal)H-Index: 8
Last.Elfride De Baere (Ghent University Hospital)H-Index: 38
view all 32 authors...
Lysine acetyltransferase 6A (KAT6A) and its paralog KAT6B form stoichiometric complexes with bromodomain- and PHD finger-containing protein 1 (BRPF1) for acetylation of histone H3 at lysine 23 (H3K23). We report that these complexes also catalyze H3K23 propionylation in vitro and in vivo. Immunofluorescence microscopy and ATAC-See revealed the association of this modification with active chromatin. Brpf1 deletion obliterates the acylation in mouse embryos and fibroblasts. Moreover, we identify B...
1 CitationsSource
#1Julia Wang (BCM: Baylor College of Medicine)H-Index: 5
#2Justine RousseauH-Index: 8
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We report an early-onset autosomal-recessive neurological disease with cerebellar atrophy and lysosomal dysfunction. We identified bi-allelic loss-of-function (LoF) variants in Oxidative Resistance 1 (OXR1) in five individuals from three families; these individuals presented with a history of severe global developmental delay, current intellectual disability, language delay, cerebellar atrophy, and seizures. While OXR1 is known to play a role in oxidative stress resistance, its molecular functio...
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#1Lot Snijders Blok (Radboud University Nijmegen)H-Index: 4
#2Justine RousseauH-Index: 8
Last.Philippe M. Campeau (UdeM: Université de Montréal)H-Index: 29
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The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has now been corrected in both the PDF and HTML versions of the Article.
Source
#2Rúben J.J. Ramos (UU: Utrecht University)H-Index: 2
Last.Ron A. Wevers (Radboud University Nijmegen)H-Index: 66
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Early-infantile encephalopathies with epilepsy are devastating conditions mandating an accurate diagnosis to guide proper management. Whole-exome sequencing was used to investigate the disease etiology in four children from independent families with intellectual disability and epilepsy, revealing bi-allelic GOT2 mutations. In-depth metabolic studies in individual 1 showed low plasma serine, hypercitrullinemia, hyperlactatemia, and hyperammonemia. The epilepsy was serine and pyridoxine responsive...
1 CitationsSource
#1Norbert F. Ajeawung (Centre Hospitalier Universitaire Sainte-Justine)H-Index: 1
#2Thi Tuyet Mai Nguyen (Centre Hospitalier Universitaire Sainte-Justine)H-Index: 6
Last.Philippe M. Campeau (UdeM: Université de Montréal)H-Index: 29
view all 14 authors...
Rothmund-Thomson syndrome (RTS) is an autosomal-recessive disorder characterized by poikiloderma, sparse hair, short stature, and skeletal anomalies. Type 2 RTS, which is defined by the presence of bi-allelic mutations in RECQL4 , is characterized by increased cancer susceptibility and skeletal anomalies, whereas the genetic basis of RTS type 1, which is associated with juvenile cataracts, is unknown. We studied ten individuals, from seven families, who had RTS type 1 and identified a deep intro...
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#1Yoshiko Murakami (Osaka University)H-Index: 29
#2Thi Tuyet Mai Nguyen (Centre Hospitalier Universitaire Sainte-Justine)H-Index: 6
Last.Philippe M. Campeau (Centre Hospitalier Universitaire Sainte-Justine)H-Index: 29
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Proteins anchored to the cell surface via glycosylphosphatidylinositol (GPI) play various key roles in the human body, particularly in development and neurogenesis. As such, many developmental disorders are caused by mutations in genes involved in the GPI biosynthesis and remodeling pathway. We describe ten unrelated families with bi-allelic mutations in PIGB, a gene that encodes phosphatidylinositol glycan class B, which transfers the third mannose to the GPI. Ten different PIGB variants were f...
1 CitationsSource
#1Scott C. Bell (McGill University)H-Index: 45
#2Justine Rousseau (UdeM: Université de Montréal)H-Index: 8
Last.Philippe M. Campeau (UdeM: Université de Montréal)H-Index: 29
view all 69 authors...
We identified individuals with variations in ACTL6B, a component of the chromatin remodeling machinery including the BAF complex. Ten individuals harbored bi-allelic mutations and presented with global developmental delay, epileptic encephalopathy, and spasticity, and ten individuals with de novo heterozygous mutations displayed intellectual disability, ambulation deficits, severe language impairment, hypotonia, Rett-like stereotypies, and minor facial dysmorphisms (wide mouth, diastema, bulbous...
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#1Kevin C. J. Nixon (UWO: University of Western Ontario)H-Index: 2
#2Justine Rousseau (Centre Hospitalier Universitaire Sainte-Justine)H-Index: 8
Last.Philippe M. Campeau (UdeM: Université de Montréal)H-Index: 29
view all 18 authors...
Mutations in several genes encoding components of the SWI/SNF chromatin remodeling complex cause neurodevelopmental disorders (NDDs). Here, we report on five individuals with mutations in SMARCD1; the individuals present with developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet. Trio exome sequencing proved the mutations to be de novo in four of the five individuals. Mutations in other SWI/SNF components cause Coffin-Siris syndrome, Nicolaides-B...
1 CitationsSource
#1Benjamin Cogné (University of Nantes)H-Index: 4
#2Sophie Ehresmann (Centre Hospitalier Universitaire Sainte-Justine)H-Index: 3
Last.Philippe M. Campeau (UdeM: Université de Montréal)H-Index: 29
view all 115 authors...
Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is controlled by histone acetyltransferases (HATs/KATs) found in multiprotein complexes that are recruited to chromatin by the scaffolding subunit transformation/transcription domain-associated protein (TRRAP). TRRAP is evolutionarily conserved and is among the top five genes intolerant to missense variation. Through an international collabora...
3 CitationsSource
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